Chromosomal diagnosis of the Werner syndrome

C. Jaramillo, R. J. Jorgenson, D. A. Miles, C. M. Moore

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.

Original languageEnglish (US)
Pages (from-to)119-126
Number of pages8
JournalBirth Defects: Original Article Series
Volume21
Issue number2
StatePublished - Dec 1 1985

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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